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by Tuijnenburg, Paul and Lango Allen, Hana and Burns, Siobhan O and Burns, Siobhan and Greene, Daniel and Jansen, Machiel H and Staples, Emily and Stephens, Jonathan and Carss, Keren J and Carss, Keren and Biasci, Daniele and Baxendale, Helen and Thomas, Moira and Chandra, Anita and Kiani-Alikhan, Sorena and Longhurst, Hilary and Longhurst, Hilary J and Seneviratne, Suranjith and Seneviratne, Suranjith L and Oksenhendler, Eric and Simeoni, Ilenia and de Bree, Godelieve J and Tool, Anton T.J and van Leeuwen, Ester M.M and Ebberink, Eduard H.T.M and Meijer, Alexander B and Tuna, Salih and Whitehorn, Deborah and Brown, Matthew and Turro, Ernest and Thrasher, Adrian and Thrasher, Adrian J and Smith, Kenneth G.C and Thaventhiran, James E and Thaventhiran, James and Kuijpers, Taco W and Kuijpers, Taco and Adhya, Zoe and Alachkar, Hana and Anantharachagan, Ariharan and Antrobus, Richard and Arumugakani, Gururaj and Bacchelli, Chiara and Bethune, Claire and Bibi, Shahnaz and Boardman, Barbara and Booth, Claire and Browning, Michael and Brownlie, Mary and Clifford, Hayley and Cooper, Nichola and Davies, Sophie and Dempster, John and Devlin, Lisa and Doffinger, Rainer and Drewe, Elizabeth and Edgar, David and Egner, William and El-Shanawany, Tariq and Gaspar, Bobby and Ghurye, Rohit and Gilmour, Kimberley and Goddard, Sarah and Gordins, Pavel and Grigoriadou, Sofia and Hackett, Scott and Hague, Rosie and Harper, Lorraine and Hayman, Grant and Herwadkar, Archana and Hughes, Stephen and Huissoon, Aarnoud and Jolles, Stephen and Jones, Julie and Kelleher, Peter and Klein, Nigel and Kumararatne, Dinakantha and Laffan, James and Lear, Sara and Lorenzo, Lorena and Maimaris, Jesmeen and Manson, Ania and McDermott, Elizabeth and Millar, Hazel and Mistry, Anoop and Morrisson, Valerie and Murng, Sai and Nasir, Iman and Nejentsev, Sergey and Noorani, Sadia and Ponsford, Mark and Qasim, Waseem and Quinn, Ellen and Quinti, Isabella and Richter, Alex and Samarghitean, Crina and Sargur, Ravishankar and Savic, Sinisa and Sewall, Carrock and Shackley, Fiona and ... and NIHR BioResource-Rare Dis and NIHR BioResource–Rare Diseases Consortium
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 10/2018, Volume 142, Issue 4, pp. 1285 - 1296
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 04/2015, Volume 112, Issue 15, pp. E1898 - E1907
Next-generation sequencing is transforming our understanding of human genetic variation but assessing the functional impact of novel variants presents... 
Glanzmann | integrin | single-nucleotide variants | next-generation sequencing | molecular modeling | INTEGRIN ALPHA-IIB-BETA-3 | BLEEDING DISORDERS | ALPHA-IIB | LIGAND-BINDING | MULTIDISCIPLINARY SCIENCES | POPULATION-GROWTH | GENETIC-VARIANTS | ALPHA(IIB)BETA INTEGRIN | BETA-3 INTEGRINS | PROPLATELET FORMATION | SALT BRIDGE
Journal Article
by Simeoni, Ilenia and Stephens, Jonathan C and Hu, Fengyuan and Deevi, Sri V. V and Megy, Karyn and Bariana, Tadbir K and Lentaigne, Claire and Schulman, Sol and Sivapalaratnam, Suthesh and Vries, Minka J. A and Westbury, Sarah K and Greene, Daniel and Papadia, Sofia and Alessi, Marie-Christine and Attwood, Antony P and Ballmaier, Matthias and Baynam, Gareth and Bermejo, Emilse and Bertoli, Marta and Bray, Paul F and Bury, Loredana and Cattaneo, Marco and Collins, Peter and Daugherty, Louise C and Favier, Remi and French, Deborah L and Furie, Bruce and Gattens, Michael and Germeshausen, Manuela and Ghevaert, Ceic and Goodeve, Anne C and Guerrero, Jose A and Hampshire, Daniel J and Hart, Daniel P and Heemskerk, Johan W. M and Henskens, Yvonne M. C and Hill, Marian and Hogg, Nancy and Jolley, Jennifer D and Kahr, Walter H and Kelly, Anne M and Kerr, Ron and Kostadima, Myrto and Kunishima, Shinji and Lambert, Michele P and Liesner, Ri and Lopez, Jose A and Mapeta, Rutendo P and Mathias, Mary and Millar, Carolyn M and Nathwani, Amit and Neerman-Arbez, Marguerite and Nurden, Alan T and Nurden, Paquita and Othman, Maha and Peerlinck, Kathelijne and Perry, David J and Poudel, Pawan and Reitsma, Pieter and Rondina, Matthew T and Smethurst, Peter A and Stevenson, William and Szkotak, Artur and Tuna, Salih and van Geet, Christel and Whitehorn, Deborah and Wilcox, David A and Zhang, Bin and Revel-Vilk, Shoshana and Gresele, Paolo and Bellissimo, Daniel B and Penkett, Christopher J and Laffan, Michael A and Mumford, Anew D and Rendon, Augusto and Gomez, Keith and Freson, Kathleen and Ouwehand, Willem H and Turro, Ernest
Blood, ISSN 0006-4971, 06/2016, Volume 127, Issue 23, pp. 2791 - 2803
Journal Article
Blood, ISSN 0006-4971, 06/2016, Volume 127, Issue 23, pp. 2903 - 2914
Journal Article
Journal Article
Clinical Immunology, ISSN 1521-6616, 06/2019, Volume 203, pp. 23 - 27
Genetic studies are identifying an increasing number of monogenic causes of Common Variable Immunodeficiency (CVID). Pathogenic variants in the C-terminus of... 
Common variable immunodeficiency | B cells | T cells | NFKB2 | DAVID SYNDROME | DEFECTS | IUIS PHENOTYPIC CLASSIFICATION | PATIENT | MUTATIONS | IMMUNOLOGY | CELL CYTOTOXIC ACTIVITY | NF-KAPPA-B | Medicine, Experimental | Medical research | Dysplasia | Immunoglobulin A
Journal Article